rs4987047
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
(T;T) | 2 |
Make rs4987047(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32379392 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs4987047 |
dbSNP (classic) | rs4987047 |
ClinGen | rs4987047 |
ebi | rs4987047 |
HLI | rs4987047 |
Exac | rs4987047 |
Gnomad | rs4987047 |
Varsome | rs4987047 |
LitVar | rs4987047 |
Map | rs4987047 |
PheGenI | rs4987047 |
Biobank | rs4987047 |
1000 genomes | rs4987047 |
hgdp | rs4987047 |
ensembl | rs4987047 |
geneview | rs4987047 |
scholar | rs4987047 |
rs4987047 | |
pharmgkb | rs4987047 |
gwascentral | rs4987047 |
openSNP | rs4987047 |
23andMe | rs4987047 |
SNPshot | rs4987047 |
SNPdbe | rs4987047 |
MSV3d | rs4987047 |
GWAS Ctlg | rs4987047 |
GMAF | 0.007805 |
Max Magnitude | 2 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]
For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.
For this particular SNP, the risk (minor) allele is (T).
ClinVar | |
---|---|
Risk | Rs4987047(T;T) |
Alt | Rs4987047(T;T) |
Reference | Rs4987047(A;A) |
Significance | Other |
Disease | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Fanconi anemia Neoplasm of breast Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome Fanconi anemia Neoplasm of breast Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32953529A>T |
CLNSRC | Ambry Genetics ClinVar Counsyl GeneDx |
CLNACC | RCV000034467.3, RCV000045638.9, RCV000083150.7, RCV000120365.6, RCV000131023.2, RCV000317148.1, RCV000413753.1, RCV000463955.1, |